Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.L217R

EMD

912 papers

RefSeq Summary

Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is ...

Pfam Domains

LEMaa 3–49UCSCLEM domain

Gene Aliases

HGNC Name

emerin

HGNC Alias Symbols

STA; LEMD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000117.3
p.L217R
c.650T>G
Surrounding Variants
1 paper
NM_000117.3
p.L217_Q219insFs
c.651_655dup5
1 paper
NM_000117.3
p.G218_D220insFs
c.654_658dup5
1 paper
NM_000117.3
p.G216R
c.646G>A
1 paper
NM_000117.3
p.G216R
c.646G>C
2 papers
NM_000117.3
p.Q219*
c.655C>T
4 papers
NM_000117.3
p.Q219fs
c.655_656fs
1 paper
NM_000117.3
p.A215V
c.644C>T
1 paper
NM_000117.3
p.A215T
c.643G>A
1 paper
NM_000117.3
p.A215_R221del0
c.643_663del21
1 paper
NM_000117.3
p.D220A
c.659A>C
5 papers
NM_000117.3
p.L217_G218insFs
c.650_654dup5
2 papers
NM_000117.3
p.P213L
c.638C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."